The features of ATR-X syndrome
There are 3 principal features in the ATR-X syndrome:
- learning difficulties
- a characteristic facial appearance
- an unusual form of anaemia known as a thalassaemia.
Other features such as abnormal genital development may also be present (see other features). The anaemia can be detected by a specific blood test and this forms the basis of a laboratory test for this condition.
Table 1 below shows the frequency with which these features are encountered in ATR-X syndrome. The table, however, does not indicate the subtlety with which these features may be present. It should be noted that even the 'principal' features may be absent.